Table II.
Findings in the eight cases in the literature with physical descriptions and amniocentesis results and our two patients.
Summary of Physical Findings
| Shaffer et al. (1996) | Lesca et al. (1999) | Genuardi et al. (1999) case 3 | Terhal et al. (2004) | Utermann et al. (2006) case 1 | Utermann et al. (2006) case 3 | Utermann et al. (2006) case 4 | Witters et al. (2007) | Case 1 | Case 2 | |
|---|---|---|---|---|---|---|---|---|---|---|
| Amniocentesis | n.t. | 14% | 8% | 63 – 67% | 30% | 40% | ~33% | 13 – 50% | 100% | 23% |
| Buccal | n.t. | n.t. | n.t. | n.t. | n.t. | <1% | 0% | 4% | 0% | 0% |
| Lymphocytes/cordocentesis | 0% | 0% | n.t. | 0% | n.t. | 0% | 0% | 0% | 0% | 0% |
| Bladder cells | n.t. | n.t. | n.t. | n.t. | n.t. | n.t. | 66% | 16% | n.t. | n.t. |
| Fibroblasts | 22% | 76–96% | 5% | 25–72% | 9% | 0–70% | 60% | n.t. | 50–75% | 0% |
| Ventriculomegaly | U | mild | U | U | U | U | U | U | U | U |
| Cerebellar abnormalities | U | U | U | Y | Y | U | Y | U | Y | U |
| Facial asymmetry | U | U | U | U | U | Y | U | U | Y | U |
| Single palmar crease | U | Y | U | U | U | Y | U | U | Y | U |
| Hearing Loss | U | Y (unilateral) | U | U | U | U | Y | U | U | U |
| IUGR | U | U | U | U | Y | U | U | U | U | U |
| Hypotonia | U | Y | U | U | U | Imp | U | U | U | U |
| Developmental delay/Intellectual Disability | U | U | U | Y | U | Y | Y | U | U | U |
| Post-natal growth retardation | U | U | U | Y | U | Y | Y | U | U | U |
| Asymmetry lower limbs | U | U | U | Y | U | U | Y | U | Y | U |
| Asymmetry upper limbs | U | U | U | U | U | Post-axial polydactyly | U | U | Y | U |
| Intestinal malrotation | U | U | U | U | U | U | Y | U | Y | U |
| Retrognatia/Micrognathia | U | Y | U | U | Y | Y | Y | U | Y | Y |
| Broad forehead | U | U | U | Y | U | U | Y | U | Y | U |
| Structural heart defect | U | U | U | U | VSD | VSD, ASD | AV stenosis; hypoplastic aortic isthmus | U | Single ventricle, truncus arteriosum | TOF |
| Electrical heart abnormality | U | Long QT | U | U | U | U | Super-ventricular tachycardia | U | U | U |
| Two vessel cord | U | U | U | U | U | Y | U | U | Y | U |
| Hypertelorism | U | U | U | Y | Y | U | U | U | Y | U |
| Age at report | 8 y 8 m | 2.5 mos | Term (21w) | 7 y 2 m | Term (16w) | 2 y | 9 y | 18 mos | 9 d | 3 mos |
| Origin of nondisjunction | Paternal post-zygotic | n.d. | n.d. | Maternal Post-zygotic | Maternal Meiosis I | n.d | Paternal post-zygotic | n.d. | Post-zygotic | n.d. |
n.d.: not determined, n.t.: not tested, U: not reported, Y: Yes, Imp: improving, VSD: Ventricular septal defect, ASD: Atrial septal defect, TOF: Tetralogy of Fallot, Term: terminated